Article
The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients.
Human reproduction (Oxford, England) - 1 Nov 2012
Fan Jiayan, Zhou Yixiong, Huang Xiaolin, Zhang Leilei, Yao Yuting, Song Xin, Chen Junzhao, Hu Jifan, Ge Shengfang, Song Huaidong, Fan Xianqun
Abstract excerpt
STUDY QUESTION: What are the implications of multiple alterations of the forkhead box L2 (FOXL2) gene in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients? SUMMARY ANSWER: A multi-mutation of FOXL2, consisting of the expansion of the polyalanine tract from 14 to 24 residues (FOXL2-Ala24), an novel Y186C substitution from c.557A>G, and a synonymous variant (c.505G>A), had a cumulative effect on...
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